ライフサイエンスコーパス: myotonia

1 ), resulting in hyperexcitability of muscle (myotonia).

2 yotonia) or percussion (mechanically induced myotonia).

3 in approximately half of the patients and no myotonia.

4 inhibition offers a new approach to treating myotonia.

5 ed by skeletal muscle wasting, weakness, and myotonia.

6 differentiating sodium from chloride channel myotonia.

7 llenge, dominant inheritance, and absence of myotonia.

8 cle weakness, progressive muscle wasting and myotonia.

9 including many changes that are secondary to myotonia.

10 vation defects, which are often observed for myotonia.

11 l of splicing biomarkers and amelioration of myotonia.

12 nsporter CIC-1, which has been implicated in myotonia.

13 argets for potential treatment of congenital myotonia.

14 myotonia congenita, and potassium-aggravated myotonia.

15 ave been detected in some heritable forms of myotonia.

16 ional defect, results in either paralysis or myotonia.

17 hich enhances excitability and gives rise to myotonia.

18 index, followed by subsequent elimination of myotonia.

19 lectrically induced and mechanically induced myotonia.

20 acterized by progressive muscle weakness and myotonia.

21 these have hitherto not been associated with myotonia.

22 istopathology signs and reduced the grade of myotonia.

23 resented non-dystrophic recessive Hereditary Myotonia.

24 n to rescue the splicing defects and reverse myotonia.

25 biting NaPIC is paralleled by elimination of myotonia.

26 r understanding of the mechanisms triggering myotonia.

27 channel 1 protein expression, and decreased myotonia.

28 ology suggested a myopathic process, without myotonia.

29 dium channel blocker currently used to treat myotonia.

30 m channels might offer effective therapy for myotonia.

31 d in the patient with periodic paralysis and myotonia.

32 o have a role, particularly when identifying myotonia.

33 explored mechanism in the pathophysiology of myotonia.

34 clinical symptoms such as muscle wasting and myotonia.

35 underscored by ClC-1 mutations in congenital myotonia.

36 lity and fatigue, and the pathophysiology of myotonias.

37 for the study of mexiletine in nondystrophic myotonias.

38 gies of periodic paralysis and nondystrophic myotonias.

39 onia congenita, and the potassium-aggravated myotonias.

40 es associated with cold- and K(+)-aggravated myotonias.

41 is an effective therapy in the nondystrophic myotonias.

42 valuating its usefulness in the treatment of myotonias.

43 t evidence-based treatment for nondystrophic myotonias.

44 .0 versus 9.44), and paradoxical eye closure myotonia (50% versus 0%).

45 years versus 10 years), frequent eye closure myotonia (73.5% versus 25%), more impairment on the Indi

46 Certain forms of myotonia, a condition characterized by delayed relaxatio

47 of the muscle chloride channel Clcn1 causes myotonia, a delayed relaxation of muscles due to repetit

48 nt treatment consideration in non-dystrophic myotonias alongside mexiletine; we propose a treatment a

49 at fiber type transitions in DM1 result from myotonia and are reversible, and support the development

50 lemic periodic paralysis (HyperKPP) produces myotonia and attacks of muscle weakness triggered by res

51 Cardinal features of DM1 are myotonia and cardiac conduction abnormalities.

52 tion, MBNL1 sequestration, splicing defects, myotonia and cardiac conduction defects, we find that MB

53 strated benefit on the key DM1 phenotypes of myotonia and cardiac conduction defects.

54 ther features of myotonic dystrophy, such as myotonia and cataracts.

55 These observations indicate that the myotonia and chloride channelopathy observed in DM both

56 ysplasia characterized by varying degrees of myotonia and chondrodysplasia, and patients with SJS sur

57 the CLCN1 gene in 88 unrelated patients with myotonia and identified mutations in 14 patients.

58 hat expressed expanded CUG repeats developed myotonia and myopathy, whereas mice expressing a nonexpa

59 sorders, cardiac arrhythmias skeletal muscle myotonia and pain.

60 Myotonia and paramyotonia congenita (PC) are rare neurom

61 ation (c.1762A>G; p.I588V) in a patient with myotonia and periodic paralysis, located within the S1 s

62 on mutations are a well-established cause of myotonia and periodic paralysis.

63 nymous CLCN1 variant that likely worsens the myotonia and potentially contributes to the amelioration

64 It has been suggested that a reversal of the myotonia and potentially other symptoms of the DM1 disea

65 Draggen mice have myotonia and suffer from intermittent hind-limb immobili

66 ardiac muscle, including periodic paralysis, myotonia and the long QT syndrome, provide clues about t

67 The treatment reduced myotonia and this correlated with increased Clcn1 expres

68 on channels involved in mechanically induced myotonia and to evaluate block of the channels involved

69 -kinesigenic dyskinesia, episodic ataxia and myotonia and we identified a novel PNKD gene deletion in

70 The myotonias and periodic paralyses are a diverse group of

71 Myotonias and periodic paralyses constitute a diverse gr

72 d with a spectrum of inherited nondystrophic myotonias and periodic paralyses.

73 le channelopathies, including non-dystrophic myotonias and periodic paralysis.

74 resence of eye closure myotonia, paradoxical myotonia, and an increase in short exercise test sensiti

75 itability, including epilepsy, chronic pain, myotonia, and cardiac arrhythmias.

76 ominant defect that produces muscle wasting, myotonia, and cardiac conduction abnormalities.

77 ked with epilepsy, ataxia, pain, arrhythmia, myotonia, and irritable bowel syndrome.

78 ses, such as hypokalemic periodic paralysis, myotonia, and long-QT and Brugada syndromes.

79 al dominant inheritance, muscular dystrophy, myotonia, and multisystem involvement.

80 es progressive functional impairment, severe myotonia, and near absence of type 2B glycolytic fibers.

81 arly genetic forms of epilepsy, arrhythmias, myotonia, and periodic paralysis.

82 cued survival and improved force generation, myotonia, and respiratory function.

83 of the periodic paralyses, the nondystrophic myotonias, and other muscle channelopathies.

84 ns causing periodic paralysis, nondystrophic myotonias, and ryanodinopathies continues to grow with t

85 assessment; quantitative measure of handgrip myotonia; and Individualized Neuromuscular Quality of Li

86 fic neonatal presentations of sodium channel myotonia are now well documented.

87 myotonia congenita, and potassium-aggravated myotonia are three autosomal dominant skeletal muscle di

88 y and its relationship to the development of myotonia are uncertain.

89 pe transition in DM1 and its relationship to myotonia are uncertain.

90 Non-dystrophic myotonias are rare diseases caused by mutations in skele

91 Non-dystrophic myotonias are skeletal muscle channelopathies caused by

92 n K(+) channels may be effective in treating myotonia as they may lessen excitability without worseni

93 s in pain, weakness, and tiredness; clinical myotonia assessment; quantitative measure of handgrip my

94 ing an unusual autosomal dominant congenital myotonia associated with debilitating pain especially se

95 acterized the functional consequences of two myotonia-associated mutations that lie at the cytoplasmi

96 zygous for this mutation exhibited prominent myotonia at rest and muscle fiber-type switching to a mo

97 suggests that the current focus of treating myotonia, blocking the transient Na(+) current underlyin

98 mutation was recently found in a family with myotonia but no weakness.

99 ls have enhanced activation, consistent with myotonia, but also conduct a leak current.

100 nd elevated serum divalent cations eliminate myotonia by inhibiting AfD and NaPIC.

101 that activation of K(+) channels may lessen myotonia by opposing depolarization to action potential

102 Elimination of mechanically induced myotonia by TRPV4 inhibition offers a new approach to tr

103 Myotonia can be triggered by voluntary movement (electri

104 er characterized by skeletal muscle wasting, myotonia, cardiac arrhythmia, hyperinsulinaemia, mental

105 al features of myotonic dystrophy, including myotonia, cardiac conduction abnormalities, histopatholo

106 aracterized by skeletal muscle dystrophy and myotonia, cataracts and cardiac conduction defects.

107 Becker syndrome, a recessive nondystrophic myotonia caused by mutations in the chloride channel 1 g

108 yotonic syndromes include the non-dystrophic myotonias, caused by mutations in genes encoding the chl

109 tally regulated alternative splicing events, myotonia, characteristic histological abnormalities, and

110 ces diverse neurological symptoms, including myotonia, cold induced myotonia, resulting in muscle sti

111 rk muscle stiffness, patients with recessive myotonia congenita (Becker disease) experience debilitat

112 Myotonia congenita (MC) is the commonest genetic skeleta

113 hannel ClC-1 identified in 223 probands with myotonia congenita as an example of these challenges.

114 t a novel mutation identified in a recessive myotonia congenita family.

115 Patients with myotonia congenita have muscle hyperexcitability due to

116 Patients with myotonia congenita have muscle hyperexcitability due to

117 Autosomal dominant myotonia congenita is an inherited disorder of skeletal

118 muscle velocity recovery cycles to evaluate myotonia congenita patients.

119 cellular recordings from two mouse models of myotonia congenita revealed the diaphragm had less myoto

120 Patients with myotonia congenita suffer from slowed muscle relaxation

121 However, in vivo studies in a mouse model of myotonia congenita suggested that side effects could lim

122 el (cClC-1) (mutation T268M in ClC-1 causing myotonia congenita) and replaces the mutant-containing 3

123 100% specific for paramyotonia congenita and myotonia congenita, respectively.

124 In mouse models of the muscle disease myotonia congenita, the diaphragm has much less myotonia

125 le five patients had a clinical diagnosis of myotonia congenita, the patient with the F428S mutation

126 after rewarming was useful in patients with myotonia congenita.

127 tonia predicted sodium channel myotonia over myotonia congenita.

128 ociated with the inherited muscular disorder myotonia congenita.

129 features or dominant inheritance pattern of myotonia congenita.

130 ncodes CLC-1, is central to the diagnosis of myotonia congenita.

131 e treatment to prevent transient weakness in myotonia congenita.

132 ients with the skeletal muscle channelopathy myotonia congenita.

133 th genetic and pharmacologic mouse models of myotonia congenita.

134 re performed in muscle from a mouse model of myotonia congenita.

135 associated with the skeletal muscle disorder myotonia congenita.

136 tic potential for treatment of patients with myotonia congenita.

137 een linked to the hereditary muscle disorder myotonia congenita.

138 ring induction of warmup in a mouse model of myotonia congenita.

139 The diaphragm is only mildly affected in myotonia congenita; discovery of the mechanism underlyin

140 causing periodic paralysis and nondystrophic myotonias continues to increase.

141 f the mechanism underlying its resistance to myotonia could identify novel therapeutic targets.

142 are the cause of several diseases including myotonias, cystic fibrosis, and kidney stones.

143 ion of patients with clinical and electrical myotonia, despite considerable phenotypic overlap, the p

144 A patient with cold-aggravated myotonia did not harbour any of the common SCN4A mutatio

145 ss by pressure overload, or muscle stress by myotonia, did not unmask a requirement for DMPK.

146 changes cause skeletal muscle paralysis and myotonia, epilepsy, and cardiac arrhythmia.

147 for membrane excitability disorders, such as myotonia, epilepsy, or chronic pain.

148 er, to the best of our knowledge, Hereditary Myotonia has never been associated with a genomic deleti

149 sis, malignant hyperthermia, and generalized myotonia have in common?

150 ee-quarters of participants, with warm up of myotonia in 75% chloride channel mutations, but also 35.

151 ted the sensitivity of symptoms and signs of myotonia in a large cohort of patients.

152 adily explained on the basis of reduced gCl, myotonia in adult HSA(LR) animals may be explained on th

153 linical and molecular findings of Hereditary Myotonia in an inbred pedigree.

154 nt in the development of RNA missplicing and myotonia in DM and provide a rationale for therapeutic s

155 ficient to reverse both splicing defects and myotonia in DM1 mice and normalizes the overall disease

156 in D3 levels and reduced muscle weakness and myotonia in DM1 mice.

157 This is the first study reporting Hereditary Myotonia in pigs and characterizing its clinical and mol

158 However, there are no reports of Hereditary Myotonia in pigs to date.

159 e primary cause of non-dystrophic Hereditary Myotonia in several animal species.

160 tine-induced sodium channel blockade reduced myotonia in small studies; however, as is common in rare

161 , TRPV4 antagonists lessened the severity of myotonia in vivo by approximately 80%.

162 action plays an important role in triggering myotonia in vivo.

163 atment of arrhythmias, neuropathic pain, and myotonias in substitution of mexiletine (metabolite swit

164 ease-associated muscle hyperexcitability, or myotonia, in the HSA(LR) poly(CUG) mouse model for DM.

165 ociated with cases of periodic paralysis and myotonia, including the human cold-sensitive disorder pa

166 Myotonia is a condition characterized by impaired relaxa

167 Myotonia is also caused by mutations in the CLCN1gene th

168 Myotonia is caused by involuntary firing of skeletal mus

169 We found the reason the diaphragm has less myotonia is that it is less prone to depolarization caus

170 tellation of features, collectively known as myotonia, is associated with abnormal alternative splici

171 ce important features of HyperKPP, including myotonia, K+-sensitive paralysis, and susceptibility to

172 l dysfunction with arrhythmia, epilepsy, and myotonia, little progress has been made toward understan

173 paramyotonia congenita, potassium-aggravated myotonia, long QT-3 syndrome, and neuropathic pain.

174 different as cardiac arrhythmias, epilepsy, myotonia, malignant hyperthermia, familial hyperinsulini

175 disorders which include: periodic paralysis, myotonias, malignant hyperthermia, and congenital myasth

176 dentifying why the diaphragm is resistant to myotonia may help in developing novel therapy.

177 reby cause both the enhanced excitability of myotonia (muscle stiffness due to repetitive discharges)

178 have been identified in families with either myotonia (muscle stiffness) or periodic paralysis, or bo

179 tonia congenita, the diaphragm has much less myotonia (muscle stiffness) than the extensor digitorum

180 ed stiffness, bedside manoeuvres to evaluate myotonia, muscle specific quality of life instruments an

181 e, triggering multisystemic manifestations - myotonia, muscle weakness, cardiac contractile defects,

182 , gain-of-function mutations in egl-19 cause myotonia: mutant muscle action potentials are prolonged

183 Channelopathic myotonia mutations halve NaV1.4 Ca2+ regulation, and tra

184 rm MBNL1 overexpression prevents CUG-induced myotonia, myopathy and alternative splicing abnormalitie

185 stigation and treatment of the nondystrophic myotonias (NDMs) and periodic paralyses.

186 Nondystrophic myotonias (NDMs) are rare diseases caused by mutations i

187 The suppression of mechanically induced myotonia occurred without altering intrinsic muscle exci

188 7 to -1.30; P < .001) and decreased handgrip myotonia on clinical examination (mexiletine, 0.164 seco

189 Na(V)1.4 currents are found in patients with myotonia or hyperkalaemic periodic paralysis (HyperPP).

190 rders, with gain-of-function defects causing myotonia or hyperkalemic periodic paralysis.

191 the defects of fibre excitability underlying myotonia or periodic paralysis.

192 l (hSkM1) have been identified as a cause of myotonia or periodic paralysis.

193 unction defects that cause susceptibility to myotonia or periodic paralysis.

194 by voluntary movement (electrically induced myotonia) or percussion (mechanically induced myotonia).

195 ye closure myotonia predicted sodium channel myotonia over myotonia congenita.

196 notypic overlap, the presence of eye closure myotonia, paradoxical myotonia, and an increase in short

197 muscle have been identified in patients with myotonia, periodic paralysis, myasthenia, or congenital

198 eletal muscle, which present clinically with myotonia, periodic paralysis, or a combination of both.

199 r mechanism underlying the chondrodystrophic myotonia phenotype of SJS is unknown.

200 hort exercise tests, symptomatic eye closure myotonia predicted sodium channel myotonia over myotonia

201 oluntary firing of muscle action potentials (myotonia), producing muscle stiffness.

202 ntaneous firing of muscle action potentials (myotonia), producing muscle stiffness.

203 -untranslated region (UTR) of the dystrophia myotonia protein kinase (DMPK) gene.

204 xhibit remarkable clinical similarity to DM (myotonia, proximal and distal limb weakness, frontal bal

205 inite or clinically suspected non-dystrophic myotonia recruited from six sites in the USA, UK and Can

206 l symptoms, including myotonia, cold induced myotonia, resulting in muscle stiffness, and tightness.

207 Myotonia reversal occurs concurrently with restoration o

208 ia congenita revealed the diaphragm had less myotonia than either the extensor digitorum longus (EDL)

209 We suggest the ideal myotonia therapy would selectively block NaPIC and spare

210 ly, MBNL1 overexpression also did not rescue myotonia, though variable rescue of Clcn1 splicing and o

211 ing intrinsic muscle excitability, such that myotonia triggered by firing of action potentials (elect

212 stem to enable study of mechanically induced myotonia using both genetic and pharmacologic mouse mode

213 Mechanically induced myotonia was markedly suppressed in TRPV4-null muscles a

214 ntributing to resistance of the diaphragm to myotonia was reduced depolarization of the interspike me

215 Myotonia was resistant to treatment; however, the most s

216 Handgrip myotonia was seen in three-quarters of participants, wit

217 g of action potentials (electrically induced myotonia) was unaffected.

218 The Ca2+/Cl- bi-channelopathy mice exhibited myotonia, weakness, and impairment of mobility and respi

219 tically confirmed symptomatic non-dystrophic myotonia were randomly assigned (1:1), by means of a blo

220 at enhanced slow inactivation cannot prevent myotonia, whereas previous studies have shown that disru

221 AMPK activator, led to a strong reduction of myotonia, which was accompanied by partial correction of

222 nine mutation, R222Q, presenting with severe myotonia without fulminant paralytic episodes.